Three-year-old Charlie Woods from Co Armagh in Northern Ireland has Bardet-Biedl syndrome, which presents with varied symptoms and is difficult to diagnose.
A young boy is going blind before he has learned to speak due to a rare genetic condition.
Charlie Woods, who is three years old and lives in Middletown in Co Armagh, has Bardet-Biedl syndrome, which has a number of variable symptoms that can often go unnoticed or misdiagnosed due to lack of awareness.
Symptoms can include vision and hearing degeneration, learning difficulties, reduced kidney function and obesity, reports Belfast Live.
Children with the condition are often born with an extra finger or toe, although this was not the case with Charlie.
His mother, Sandy, says she fought a long battle to get her son diagnosed with the condition, and it was only discovered after she sought private genetic testing in the Republic of Ireland.
You’ve been told that your son may go blind at night around age four, after discovering he was hearing impaired, and likely to register as blind in his early 20s.
She said: “December 2020, Charlie was diagnosed with Bardet-Biedl syndrome, which is a rare genetic disorder that affects one in 100,000 children born in the UK.
“My husband and I were unknown carriers of a mutated BBS1 gene.
“It is a condition that can be very difficult to diagnose and many of the medical professionals involved in Charlie’s care prior to his diagnosis admitted that they had not even heard of the condition. Genetic testing is necessary for a confirmed diagnosis. .
“I started taking Charlie to the doctor when he was seven months old when I started having a number of concerns about his development. Doctors initially thought he might have other conditions, including autism, but it wasn’t until I ordered a genetic test that we were able to find out that he had Bardet-Biedl Syndrome.
“At the moment, Charlie is unable to speak and we were told that his retina at the back of his eye is already showing signs of vision loss. Last year we discovered that he also had hearing loss, but thankfully this was significantly corrected after the grommets were fitted to his ears at Great Ormond Street Hospital in London.
“It is likely that he will go blind at night in the next 12 to 24 months as his vision deteriorates and, due to his developmental issues, we are concerned that it may be a real struggle to get him help in the future to live his life.” , such as learning sign language or braille.”
Sandy says her family has to visit London every few months to see a specialist, as there isn’t one for the condition in Northern Ireland, and hopes to spread more about it so there can be a higher level of support locally. . .
She added: “There are no Bardet-Biedl syndrome specialists in Northern Ireland so we have to attend a three-day clinic in London for Charlie to get a full check-up on his condition.
“While some doctors here are aware of the condition, because we don’t have specialists, it can be difficult for them to provide advice on how to support you or what to expect in the future.”
“Many other professionals have never heard of the condition at all.
“I hope that by raising awareness of the condition, we can have more support for children and parents, as Charlie will need constant support due to the dangers he will face just trying to live his life.
“He will have difficulty climbing stairs or even crossing the street, we’ve been told we don’t even expect him to ride a bike like most young children do, and by fostering more support and awareness it could make his life a lot easier.”
Sandy is working with the charity BBSUK in the hope of developing a conference in Northern Ireland on Bardet-Biedl Syndrome.
They hope the conference can take place this year and ask anyone who has experience with the condition to contact them, be it personal or professional experience.
She said: “We hope to bring people together to find ways to improve support and care for people with Bardet-Biedl syndrome ahead of National Rare Disease Day on February 28.”
George Holan is chief editor at Plainsmen Post and has articles published in many notable publications in the last decade.